Canonical Allele Identifier: CA2260771355

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067645_43067656delinsTAGATTAGTTAA , CM000679.2:g.43067645_43067656delinsTAGATTAGTTAA	GRCh38
NC_000017.10:g.41219662_41219673delinsTAGATTAGTTAA , CM000679.1:g.41219662_41219673delinsTAGATTAGTTAA	GRCh37
NC_000017.9:g.38473188_38473199delinsTAGATTAGTTAA	NCBI36
NG_005905.2:g.150328_150339delinsTTAACTAATCTA , LRG_292:g.150328_150339delinsTTAACTAATCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5023_5034delinsTTAACTAATCTA	ENSP00000417241.2:p.Leu1675=
ENST00000470026.6:c.5026_5037delinsTTAACTAATCTA	ENSP00000419274.2:p.Leu1676=
ENST00000473961.6:c.4900_4911delinsTTAACTAATCTA	ENSP00000420201.2:p.Leu1634=
ENST00000476777.6:c.5020_5031delinsTTAACTAATCTA	ENSP00000417554.2:p.Leu1674=
ENST00000477152.6:c.4948_4959delinsTTAACTAATCTA	ENSP00000419988.2:p.Leu1650=
ENST00000478531.6:c.1714_1725delinsTTAACTAATCTA	ENSP00000420412.2:p.Leu572=
ENST00000489037.2:c.4948_4959delinsTTAACTAATCTA	ENSP00000420781.2:p.Leu1650=
ENST00000493919.6:c.1576_1587delinsTTAACTAATCTA	ENSP00000418819.2:p.Leu526=
ENST00000494123.6:c.5026_5037delinsTTAACTAATCTA	ENSP00000419103.2:p.Leu1676=
ENST00000497488.2:c.4138_4149delinsTTAACTAATCTA	ENSP00000418986.2:p.Leu1380=
ENST00000618469.2:c.5026_5037delinsTTAACTAATCTA	ENSP00000478114.2:p.Leu1676=
ENST00000634433.2:c.4903_4914delinsTTAACTAATCTA	ENSP00000489431.2:p.Leu1635=
ENST00000644379.2:c.5092_5103delinsTTAACTAATCTA	ENSP00000496570.2:p.Leu1698=
ENST00000644555.2:c.1576_1587delinsTTAACTAATCTA	ENSP00000494614.2:p.Leu526=
ENST00000652672.2:c.4885_4896delinsTTAACTAATCTA	ENSP00000498906.2:p.Leu1629=
ENST00000484087.6:c.1588_1599delinsTTAACTAATCTA	ENSP00000419481.2:p.Leu530=
ENST00000357654.9:c.5026_5037delinsTTAACTAATCTA MANE Select	ENSP00000350283.3:p.Leu1676=
ENST00000471181.7:c.5089_5100delinsTTAACTAATCTA	ENSP00000418960.2:p.Leu1697=
ENST00000644379.1:c.1413_1424delinsTTAACTAATCTA
ENST00000352993.7:c.1600_1611delinsTTAACTAATCTA	ENSP00000312236.5:p.Leu534=
ENST00000357654.7:c.5026_5037delinsTTAACTAATCTA	ENSP00000350283.3:p.Leu1676=
ENST00000461221.5:c.*4809_*4820delinsTTAACTAATCTA	ENSP00000418548.1:n.*4809_*4820delinsTTAACTAATCTA
ENST00000468300.5:c.1714_1725delinsTTAACTAATCTA	ENSP00000417148.1:p.Leu572=
ENST00000471181.6:c.5089_5100delinsTTAACTAATCTA	ENSP00000418960.2:p.Leu1697=
ENST00000472490.1:n.179_190delinsTTAACTAATCTA
ENST00000478531.5:c.1714_1725delinsTTAACTAATCTA	ENSP00000420412.1:p.Leu572=
ENST00000484087.5:c.1339_1350delinsTTAACTAATCTA	ENSP00000419481.1:p.Leu447=
ENST00000491747.6:c.1714_1725delinsTTAACTAATCTA	ENSP00000420705.2:p.Leu572=
ENST00000493795.5:c.4885_4896delinsTTAACTAATCTA	ENSP00000418775.1:p.Leu1629=
ENST00000493919.5:c.1576_1587delinsTTAACTAATCTA	ENSP00000418819.1:p.Leu526=
ENST00000586385.5:c.5-3705_5-3694delinsTTAACTAATCTA	ENSP00000465818.1:n.5-3705_5-3694delinsTTAACTAATCTA
ENST00000591534.5:c.499_510delinsTTAACTAATCTA	ENSP00000467329.1:p.Leu167=
ENST00000591849.5:c.-98-17466_-98-17455delinsTTAACTAATCTA	ENSP00000465347.1:n.-98-17466_-98-17455delinsTTAACTAATCTA
NM_007294.3:c.5026_5037delinsTTAACTAATCTA , LRG_292t1:c.5026_5037delinsTTAACTAATCTA	NP_009225.1:p.Leu1676=
NM_007297.3:c.4885_4896delinsTTAACTAATCTA	NP_009228.2:p.Leu1629=
NM_007298.3:c.1714_1725delinsTTAACTAATCTA	NP_009229.2:p.Leu572=
NM_007299.3:c.1714_1725delinsTTAACTAATCTA	NP_009230.2:p.Leu572=
NM_007300.3:c.5089_5100delinsTTAACTAATCTA	NP_009231.2:p.Leu1697=
NR_027676.1:n.5162_5173delinsTTAACTAATCTA
NM_007294.4:c.5026_5037delinsTTAACTAATCTA MANE Select	NP_009225.1:p.Leu1676=
NM_007297.4:c.4885_4896delinsTTAACTAATCTA	NP_009228.2:p.Leu1629=
NM_007299.4:c.1714_1725delinsTTAACTAATCTA	NP_009230.2:p.Leu572=
NM_007300.4:c.5089_5100delinsTTAACTAATCTA	NP_009231.2:p.Leu1697=
NR_027676.2:n.5203_5214delinsTTAACTAATCTA